MYO7A, myosin VIIA, 4647

N. diseases: 104; N. variants: 194
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs199606180
rs199606180
0.882 0.200 11 77206120 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C3711374
Disease: Nonsyndromic Deafness
Nonsyndromic Deafness
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2014 2014